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Exclusion of WNT4 as a major gene in Rokitansky-Küster-Hauser anomaly.
Clément-Ziza M, Khen N, Gonzales J, Crétolle-Vastel C, Picard JY, Tullio-Pelet A, Besmond C, Munnich A, Lyonnet S, Nihoul-Fékété C. Clément-Ziza M, et al. Among authors: munnich a. Am J Med Genet A. 2005 Aug 15;137(1):98-9. doi: 10.1002/ajmg.a.30833. Am J Med Genet A. 2005. PMID: 16007613 No abstract available.
Filippi syndrome: a new case with skeletal abnormalities.
Héron D, Billette de Villemeur T, Munnich A, Lyonnet S. Héron D, et al. Among authors: munnich a. J Med Genet. 1995 Aug;32(8):659-61. doi: 10.1136/jmg.32.8.659. J Med Genet. 1995. PMID: 7473664 Free PMC article. Review.
Expression of the PAX2 gene in human embryos and exclusion in the CHARGE syndrome.
Tellier AL, Amiel J, Delezoide AL, Audollent S, Augé J, Esnault D, Encha-Razavi F, Munnich A, Lyonnet S, Vekemans M, Attié-Bitach T. Tellier AL, et al. Among authors: munnich a. Am J Med Genet. 2000 Jul 17;93(2):85-8. doi: 10.1002/1096-8628(20000717)93:2<85::aid-ajmg1>3.0.co;2-b. Am J Med Genet. 2000. PMID: 10869107
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development.
Sanlaville D, Etchevers HC, Gonzales M, Martinovic J, Clément-Ziza M, Delezoide AL, Aubry MC, Pelet A, Chemouny S, Cruaud C, Audollent S, Esculpavit C, Goudefroye G, Ozilou C, Fredouille C, Joye N, Morichon-Delvallez N, Dumez Y, Weissenbach J, Munnich A, Amiel J, Encha-Razavi F, Lyonnet S, Vekemans M, Attié-Bitach T. Sanlaville D, et al. Among authors: munnich a. J Med Genet. 2006 Mar;43(3):211-217. doi: 10.1136/jmg.2005.036160. Epub 2005 Sep 16. J Med Genet. 2006. PMID: 16169932 Free PMC article.
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome.
Faivre L, Dollfus H, Lyonnet S, Alembik Y, Mégarbané A, Samples J, Gorlin RJ, Alswaid A, Feingold J, Le Merrer M, Munnich A, Cormier-Daire V. Faivre L, et al. Among authors: munnich a. Am J Med Genet A. 2003 Dec 1;123A(2):204-7. doi: 10.1002/ajmg.a.20289. Am J Med Genet A. 2003. PMID: 14598350 Review.
1,068 results